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A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1

✍ Scribed by Jill A. Fahrner; Aisha Frazier; Suha Bachir; Michael F. Walsh; Carolyn D. Applegate; Reid Thompson; Marc K. Halushka; Anne M. Murphy; Meral Gunay-Aygun


Book ID
111995191
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
526 KB
Volume
158A
Category
Article
ISSN
1552-4825

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## Abstract Familial amyotrophic lateral sclerosis (ALS) is frequently associated with mutations in the __SOD1__ gene. We identified a rapidly progressive disease in a patient with an inherited ALS. The identified heterozygous T>A exchange in position 1067 in the __SOD1__ gene results in an amino a